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  3. C9orf72
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Childhood onset dystonia, chorea or related movement disorder

Gene: C9orf72

Red List (low evidence)
C9orf72 (chromosome 9 open reading frame 72)
EnsemblGeneIds (GRCh38): ENSG00000147894
EnsemblGeneIds (GRCh37): ENSG00000147894
OMIM: 614260, Gene2Phenotype
C9orf72 is in 7 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism. Gene should be demoted to Red and MOI should be changed to 'Other' to maintain consistency with other panels.
Created: 8 Nov 2021, 11:13 a.m. | Last Modified: 8 Nov 2021, 11:13 a.m.
Panel Version: 1.179
Created: 8 Nov 2021, 11:13 a.m.
Last Modified: 8 Nov 2021, 11:13 a.m.
Panel version: 1.179

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 10:59 a.m. | Last Modified: 14 Mar 2022, 10:59 a.m.
Panel Version: 1.217
The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 3 Mar 2022, 4:45 p.m. | Last Modified: 3 Mar 2022, 4:45 p.m.
Panel Version: 1.212
Helen Brittain (Genomics England Clinical Fellow) suggested a Red rating, as the phenotype associated with variants in this gene has an adult onset and therefore is not appropriate for a childhood gene panel.
Created: 22 Jul 2021, 1:09 p.m. | Last Modified: 22 Jul 2021, 1:09 p.m.
Panel Version: 1.136
GMS review is requested in regard to reviews by Zornitza Stark & James Polke that C9orf72 gene is not appropriate for this adult onset panel.
Created: 19 May 2021, 12:03 p.m. | Last Modified: 19 May 2021, 12:03 p.m.
Panel Version: 1.114
Created: 19 May 2021, 12:03 p.m.
Last Modified: 19 May 2021, 12:03 p.m.
Panel version: 1.217

James Polke (North Thames GLH)

Red List (low evidence)

This is included as a gene to be sequenced (as opposed to the STR entry for this gene in PanelApp: C9orf72_GGGGCC), but there is no evidence that sequence changes in C9orf72 cause FTD/ALS or related conditions. In addition, it is an adult-onset condition and should not be in this childhood onset panel.
Created: 19 May 2021, 10:46 a.m. | Last Modified: 19 May 2021, 10:46 a.m.
Panel Version: 1.114
Created: 19 May 2021, 10:46 a.m.
Last Modified: 19 May 2021, 10:46 a.m.
Panel version: 1.114

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Dystonia is well described but this appears to be an adult-onset disorder. Also note condition is caused by heterozygous hexanucleotide repeat expansion (GGGGCC) in a noncoding region of the C9ORF72 gene.
Created: 5 Sep 2020, 4:15 a.m. | Last Modified: 5 Sep 2020, 4:22 a.m.
Panel Version: 1.49

Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, MIM# 105550

Publications

Created: 5 Sep 2020, 4:15 a.m.
Last Modified: 5 Sep 2020, 4:22 a.m.
Panel version: 1.49

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Suggested by Huw and Raquel
Created: 9 Jul 2019, 4:24 p.m. | Last Modified: 9 Jul 2019, 4:24 p.m.
Panel Version: 0.9
Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • London North GLH
Phenotypes
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550
OMIM
614260
Clinvar variants
Variants in C9orf72
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 1

Removed Tag, Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q4_21_MOI was removed from gene: C9orf72. Tag Q4_21_rating was removed from gene: C9orf72. Tag Q4_21_NHS_review was removed from gene: C9orf72.

3 Mar 2022, Gel status: 1

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Red was added to C9orf72. Rating Changed from Green List (high evidence) to Red List (low evidence)

13 Dec 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_NHS_review tag was added to gene: C9orf72.

8 Nov 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_21_MOI tag was added to gene: C9orf72.

8 Nov 2021, Gel status: 3

Removed Tag, Removed Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_21_phenotype was removed from gene: C9orf72. Tag Q2_21_expert_review was removed from gene: C9orf72. Tag Q4_21_rating tag was added to gene: C9orf72.

8 Nov 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: C9orf72 were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550

19 May 2021, Gel status: 3

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_21_phenotype tag was added to gene: C9orf72. Tag Q2_21_expert_review tag was added to gene: C9orf72.

18 May 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: C9orf72 were changed from Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550 to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 OMIM:105550; frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105

18 May 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: C9orf72 were set to

6 Dec 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: C9orf72 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Dec 2019, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: C9orf72 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: C9orf72 was added gene: C9orf72 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: C9orf72 was set to